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Fragile X syndrome is caused by a change in the FMR1 gene. The gene's code is repeated on a fragile area of the X chromosome.
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In order to understand fragile X syndrome it is important to understand how human genes and chromosomes influence this condition. Normally, each cell in the body contains 46(23 pairs of) chromosomes.
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This stage of expansion is called a premutation. People who carry a premutation do not usually have symptoms of fragile X syndrome; although there have been reports of individuals with a premutation and subtle intellectual or behavioral symptoms.
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In order to understand fragile X syndrome it is important to understand how human genes and chromosomes influence this condition. Normally, each cell in the body contains 46(23 pairs of) chromosomes.
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For reasons not fully understood, the CGG sequence in the FMR-1 gene can expand through succeeding generations to contain between 54 and 230 repeats. This stage of expansion is called a premutation.
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Detailed information on the different types of genetic diseases that can affect a pregnancy
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